(Q48226607)

9 February 2018

title

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis. (English)

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9 February 2018

amyotrophic lateral sclerosis

main subject

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Michael J Strong

7

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Robert A. Hegele

6

object named as

Robert A Hegele

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author name string

Cristian A Droppelmann

1

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9 February 2018

Jian Wang

2

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9 February 2018

Danae Campos-Melo

3

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9 February 2018

Brian Keller

4

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9 February 2018

Kathryn Volkening

5

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9 February 2018

publication date

4 January 2013

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9 February 2018

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

published in

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9 February 2018

volume

14

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9 February 2018

issue

5-6

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9 February 2018

page(s)

444-451

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9 February 2018

The pathobiology of amyotrophic lateral sclerosis: a proteinopathy?

cites work

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

21 January 2018

1 reference

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 January 2018

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

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Accumulation of phosphorylated neurofilaments in anterior horn motoneurons of amyotrophic lateral sclerosis patients.

21 January 2018

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Expression of peripherin in ubiquinated inclusions of amyotrophic lateral sclerosis

21 January 2018

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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Detergent-insoluble aggregates associated with amyotrophic lateral sclerosis in transgenic mice contain primarily full-length, unmodified superoxide dismutase-1.

21 January 2018

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Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS).

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

21 January 2018

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Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma

21 January 2018

1 reference

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TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes

21 January 2018

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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Mutant copper-zinc superoxide dismutase binds to and destabilizes human low molecular weight neurofilament mRNA.

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2012.758288

The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Misregulated RNA processing in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Neurodegeneration the RNA way

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

RNA dysregulation in diseases of motor neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Neurofilament metabolism in sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Late onset of motor neurons in mice overexpressing wild-type peripherin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Post-transcriptional control of neurofilaments: New roles in development, regeneration and neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Post-transcriptional control of neurofilaments in development and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Rho guanine nucleotide exchange factor is an NFL mRNA destabilizing factor that forms cytoplasmic inclusions in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Rapamycin rescues TDP-43 mislocalization and the associated low molecular mass neurofilament instability

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

The C-terminal TDP-43 fragments have a high aggregation propensity and harm neurons by a dominant-negative mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Frequency of Germline Genomic Homozygosity Associated With Cancer Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2012.758288

10.3109/21678421.2012.758288

21 January 2018

Identifiers

DOI

1 reference

9 February 2018

1 reference

9 February 2018